Ring chromosome 20 with normal number of chromosomes (Q101739): Difference between revisions
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A síndrome do cromossomo 20 em anel é uma anomalia cromossômica marcada por uma convulsão de fenótipo característico. Dependendo da quantidade de perda cromossômica e do mosaicismo associado, o anel(20) pode estar associado a macrocefalia, déficit intelectual leve a moderado ou problemas comportamentais. Em casos raros, malformações cerebrais, renais ou cardíacas podem estar presentes. O desenvolvimento psicomotor inicial geralmente não é afetado e o crescimento pré e pós-natal é normal. Não há dismorfismo reconhecível, embora estrabismo, micrognatia, fissuras palpebrais inclinadas para baixo e anormalidades de orelha tenham sido relatados em alguns indivíduos afetados. | |||
| description / en | description / en | ||
Ring chromosome 20 syndrome is a chromosomal anomaly marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present. Initial psychomotor development is usually unaffected and pre- and postnatal growth are normal. There is no recognizable dysmorphism although strabismus, micrognathia, down-slanting palpebral fissures, and ear abnormalities have been reported in some affected individuals. | |||
Revision as of 18:34, 16 August 2026
Ring chromosome 20 syndrome is a chromosomal anomaly marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present. Initial psychomotor development is usually unaffected and pre- and postnatal growth are normal. There is no recognizable dysmorphism although strabismus, micrognathia, down-slanting palpebral fissures, and ear abnormalities have been reported in some affected individuals.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1840852397 |
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| English | Ring chromosome 20 with normal number of chromosomes |
Ring chromosome 20 syndrome is a chromosomal anomaly marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present. Initial psychomotor development is usually unaffected and pre- and postnatal growth are normal. There is no recognizable dysmorphism although strabismus, micrognathia, down-slanting palpebral fissures, and ear abnormalities have been reported in some affected individuals. |
